| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARHGAP26_chr5_142765377_143234007 | 142975430 | T | TCTGTCTG others(298): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0153a0001c0001t0002g0142a0001c0001t0002g0190others(35): Show | 38 | 198 | 0.1919 | 305 | c.110 others(326): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARHGAP26_chr5_142765377_143234007 | 142975430 | T | TCTGTCTG others(298): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(3): Show | a0001c0001t0001g0012a0001c0001t0004g0056a0001c0001t0014g0038others(3): Show | 6 | 198 | 0.0303 | 305 | c.110 others(326): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARHGAP26_chr5_142765377_143234007 | 142975430 | T | TCTGTCTG others(298): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0011a0002c0007t0004 | a0001c0001t0011g0091a0002c0007t0004g0110 | 2 | 198 | 0.0101 | 305 | c.110 others(326): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1825105 | C | CCCCCCGC others(298): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0047 | a0001c0047t0009 | a0001c0047t0009g0331 | 1 | 363 | 0.0028 | 305 | c.-48 others(320): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ASPG_chr14_104080700_104120582 | 104085483 | A | ACCCCGCC others(298): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0238 | 1 | 368 | 0.0027 | 305 | c.-28 others(314): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 216 | chr14 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25815512 | T | TGATCCTC others(298): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(208): Show |
a0001a0002a0003others(43): Show | a0001c0001a0001c0014a0001c0019others(59): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(70): Show | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0038others(208): Show | 211 | 300 | 0.7033 | 305 | c.450 others(324): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25815512 | T | TGATCCTC others(298): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 300 | 0.0033 | 305 | c.450 others(324): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25815512 | T | TGATCCTC others(298): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01169.hp1 others(13): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0009a0002c0002others(7): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(8): Show | a0001c0001t0001g0061a0001c0001t0001g0087a0001c0001t0001g0088others(13): Show | 16 | 300 | 0.0533 | 305 | c.450 others(324): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25815512 | T | TGATCCTC others(298): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03225.hp2 |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0001a0007c0015t0001 | a0001c0001t0001g0039a0007c0015t0001g0026 | 2 | 300 | 0.0067 | 305 | c.450 others(324): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
| BCAS1_chr20_53938541_54075594 | 54021397 | T | TAAAAAAA others(298): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18944.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0213a0002c0002t0001g0217 | 2 | 364 | 0.0055 | 305 | c.723 others(322): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
| BCAS1_chr20_53938541_54075594 | 54021397 | T | TAAAAAAA others(298): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0338 | 1 | 364 | 0.0028 | 305 | c.723 others(322): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
| BIRC5_chr17_78209253_78230635 | 78210857 | T | TTTTTTTT others(298): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01069.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0042a0001c0001t0043others(2): Show | a0001c0001t0005g0008a0001c0001t0005g0052a0001c0001t0042g0008others(3): Show | 19 | 432 | 0.0440 | 305 | c.-34 others(316): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 3395 | chr17 | TogoVar | ||||||
| BOK_chr2_241553745_241579131 | 241570448 | G | GTCTGAGC others(298): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00642.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0025others(1): Show | a0001c0001t0006g0005a0001c0001t0006g0133a0001c0001t0006g0207others(16): Show | 24 | 434 | 0.0553 | 305 | c.513 others(320): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BPIFC_chr22_32408845_32469446 | 32423939 | T | TAAAACTC others(298): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 422 | 0.0024 | 305 | c.121 others(324): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
| C1orf87_chr1_59985394_60078770 | 60004924 | G | GGCAGCTT others(298): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01123.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0149a0002c0002t0001g0150a0002c0002t0001g0152others(1): Show | 4 | 382 | 0.0105 | 305 | c.119 others(324): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 9/11 | chr1 | TogoVar | ||||||
| C8orf90_chr8_141509671_141523729 | 141515302 | C | CCATCCAC others(298): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 450 | 0.0022 | 305 | c.79+ others(318): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CAMSAP1_chr9_135803487_135912546 | 135847949 | G | GGGGAAGG others(298): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 340 | 0.0029 | 305 | c.104 others(324): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | ||||||
| CAMTA1_chr1_6780454_7774706 | 7426179 | T | TAAAAAGG others(298): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 58 | 0.0172 | 305 | c.439 others(324): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPZA3_chr12_18733119_18744188 | 18743242 | T | TAGAAAAT others(298): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 392 | 0.0026 | 305 | c.*40 others(316): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 4055 | chr12 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88894454 | G | GCACACAT others(298): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 284 | 0.0035 | 305 | c.380 others(322): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88975155 | T | TCCACCCT others(298): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 284 | 0.0035 | 305 | c.151 others(322): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
| CCDC171_chr9_15548043_15979037 | 15831809 | A | ACAAAACT others(298): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0028 | 1 | 266 | 0.0038 | 305 | c.326 others(326): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCR9_chr3_45881543_45908174 | 45890256 | G | GAAATATA others(298): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 424 | 0.0024 | 305 | c.-29 others(322): Show |
CCR9 | ENSG00000173585.18 | transcript | ENST00000357632.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84501837 | A | AAAATATA others(298): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0122 | 1 | 370 | 0.0027 | 305 | c.232 others(326): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | chr10 | TogoVar | ||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCTCCC others(298): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0059 | 1 | 256 | 0.0039 | 305 | c.-45 others(326): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CDH10_chr5_24482100_24649978 | 24629553 | A | ACCCAAAT others(298): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284 | 1 | 290 | 0.0035 | 305 | c.-12 others(326): Show |
CDH10 | ENSG00000040731.10 | transcript | ENST00000264463.8 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
| CERS5_chr12_50124289_50172369 | 50161784 | G | GAAAAAAA others(298): Show |
intron_variant | MODIFIER | NA19063.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0183a0001c0001t0013g0186 | 2 | 320 | 0.0063 | 305 | c.197 others(322): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
| CNNM2_chr10_102913294_103095222 | 103048588 | G | GTGACAGG others(298): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG03490.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0057a0002c0004t0058a0002c0004t0060others(1): Show | a0002c0004t0057g0202a0002c0004t0058g0203a0002c0004t0060g0197others(1): Show | 4 | 270 | 0.0148 | 305 | c.162 others(324): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CNNM2_chr10_102913294_103095222 | 103048588 | G | GTGACAGG others(298): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 |
a0002 | a0002c0004 | a0002c0004t0003a0002c0004t0059 | a0002c0004t0003g0201a0002c0004t0059g0217 | 2 | 270 | 0.0074 | 305 | c.162 others(324): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| COL13A1_chr10_69796906_69964144 | 69850404 | T | TAAGAGAC others(298): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0308 | 1 | 324 | 0.0031 | 305 | c.365 others(324): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45499520 | G | GCATGGCA others(298): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(96): Show |
a0001a0002a0004others(13): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0002t0012a0001c0003t0001others(41): Show | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0052others(96): Show | 99 | 292 | 0.3390 | 305 | c.268 others(324): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45499520 | G | GCATGGCA others(298): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0032 | 1 | 292 | 0.0034 | 305 | c.268 others(324): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45500695 | T | TGTGTGTG others(298): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02572.hp2 others(1): Show |
a0011a0019 | a0011c0040a0011c0104a0019c0096 | a0011c0040t0001a0011c0104t0002a0019c0096t0015 | a0011c0040t0001g0046a0011c0040t0001g0076a0011c0104t0002g0003others(1): Show | 4 | 292 | 0.0137 | 305 | c.268 others(324): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL4A1_chr13_110143963_110312157 | 110255826 | A | AGGGGGAA others(298): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0211 | 1 | 344 | 0.0029 | 305 | c.85- others(322): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| COMMD10_chr5_116080025_116298287 | 116158291 | C | CTCCGTCT others(298): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 350 | 0.0029 | 305 | c.510 others(324): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | ||||||
| CPB2_chr13_46048186_46110033 | 46073597 | T | TCAATGTA others(298): Show |
intron_variant | MODIFIER | HG02976.hp1 HG02976.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0041a0002c0002t0002g0142 | 2 | 330 | 0.0061 | 305 | c.591 others(320): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
| CPED1_chr7_120983711_121302442 | 121047646 | T | TTTCTTCT others(298): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0128 | 1 | 140 | 0.0071 | 305 | c.540 others(320): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CSMD3_chr8_112217928_113441939 | 112393888 | T | TTTTTTTT others(298): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 80 | 0.0125 | 305 | c.581 others(324): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 35/70 | chr8 | TogoVar | ||||||
| CSNK1G2_chr19_1936172_1986338 | 1967793 | C | CATCCTCC others(298): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 382 | 0.0026 | 305 | c.-26 others(324): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CSNK1G2_chr19_1936172_1986338 | 1967793 | C | CATCCTCC others(298): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0014 | 1 | 382 | 0.0026 | 305 | c.-26 others(324): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CSRNP3_chr2_165464698_165694407 | 165674048 | T | TAAAAATA others(298): Show |
intron_variant | MODIFIER | NA18972.hp2 NA19009.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0021a0001c0004t0089 | a0001c0002t0021g0245a0001c0004t0089g0020 | 2 | 246 | 0.0081 | 305 | c.409 others(322): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CTNNA3_chr10_65907523_67701195 | 67025885 | T | TAAGAAAA others(298): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02622.hp1 HG02717.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0004t0007others(1): Show | a0001c0001t0001g0015a0001c0001t0007g0020a0001c0004t0007g0005others(1): Show | 4 | 46 | 0.0870 | 305 | c.104 others(328): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
| CXCL6_chr4_73831678_73843760 | 73842184 | T | TAATTATA others(298): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 HG02735.hp2 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 444 | 0.0068 | 305 | c.*45 others(316): Show |
CXCL6 | ENSG00000124875.10 | transcript | ENST00000226317.10 | protein_coding | 3425 | chr4 | TogoVar | ||||||
| CXorf51A_chrX_146809106_146819744 | 146816232 | C | CCTATATA others(298): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 264 | 0.0038 | 305 | c.-15 others(316): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1489 | chrX | TogoVar | ||||||
| CYTIP_chr2_157409619_157449089 | 157423466 | T | TAAAAAAA others(298): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18948.hp1 NA18963.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0087others(6): Show | 11 | 320 | 0.0344 | 305 | c.546 others(322): Show |
CYTIP | ENSG00000115165.10 | transcript | ENST00000264192.8 | protein_coding | 6/7 | chr2 | TogoVar | ||||||
| DCLK2_chr4_150073445_150262438 | 150251117 | T | TCCCTCAC others(298): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 116 | 0.0086 | 305 | c.207 others(324): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DCLK2_chr4_150073445_150262438 | 150251147 | C | CCCACATC others(298): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0076 | 1 | 116 | 0.0086 | 305 | c.207 others(324): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DDX51_chr12_132131594_132149319 | 132148918 | C | CACCACAC others(298): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 1 | 334 | 0.0030 | 305 | c.-46 others(316): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4600 | chr12 | TogoVar | ||||||
| DENND2C_chr1_114577850_114675049 | 114658771 | A | ACAGTTCT others(298): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0276 | 1 | 300 | 0.0033 | 305 | c.-57 others(324): Show |
DENND2C | ENSG00000175984.16 | transcript | ENST00000393274.6 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
| DGKD_chr2_233349494_233477098 | 233463515 | G | GTCCTCAC others(298): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 336 | 0.0030 | 305 | c.318 others(322): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |